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Molecular karyotyping is a powerful genomic tool that has quickly become the mainstay for the study of children with malformation syndromes. We describe three patients with major limb reduction anomalies in whom pathogenic copy number variants were identified on molecular karyotyping. These include a patient with hypoplastic phalanges and absent hallux bilaterally with de novo deletion of 11.9\u2009Mb on 7p21.1\u201322.1 spanning 63 genes including <jats:italic>RAC1<\/jats:italic>, another patient with severe Holt\u2013Oram syndrome and a large de novo deletion 2.2\u2009Mb on 12q24.13\u201324.21 spanning 20 genes including <jats:italic>TBX3<\/jats:italic> and <jats:italic>TBX5<\/jats:italic>, and a third patient with acheiropodia who had a nullizygous deletion of 102\u2009kb on 7q36.3 spanning <jats:italic>LMBR1<\/jats:italic>. We discuss the potential of these novel genomic rearrangements to improve our understanding of limb development in humans. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37550","type":"journal-article","created":{"date-parts":[[2016,1,10]],"date-time":"2016-01-10T14:56:28Z","timestamp":1452437788000},"page":"1245-1250","source":"Crossref","is-referenced-by-count":10,"title":["Novel copy number variants and major limb reduction malformation: Report of three cases"],"prefix":"10.1002","volume":"170","author":[{"given":"Hanan E.","family":"Shamseldin","sequence":"first","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shams","family":"Anazi","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salma M.","family":"Wakil","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eissa","family":"Faqeih","sequence":"additional","affiliation":[{"name":"Department of Pediatric Specialties Children's Hospital King Fahad Medical City Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heba Y.","family":"El Khashab","sequence":"additional","affiliation":[{"name":"Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia"},{"name":"Department of Pediatrics Children's Hospital Ain Shams University Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa A.","family":"Salih","sequence":"additional","affiliation":[{"name":"Department of Pediatrics College of Medicine King Saud University Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad M.","family":"Al\u2010Qattan","sequence":"additional","affiliation":[{"name":"Department of Surgery College of Medicine King Saud University Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mais","family":"Hashem","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haifa","family":"Alsedairy","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fowzan S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology College of Medicine Alfaisal University Riyadh Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,1,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.184"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36054"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36447"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31340"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1093\/genetics\/159.2.715","article-title":"Reciprocal mouse and human limb phenotypes caused by gain\u2010 and loss\u2010of\u2010function mutations affecting Lmbr1","volume":"159","author":"Clark RM","year":"2001","journal-title":"Genetics"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10981"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/316955"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36486"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100409"},{"key":"e_1_2_5_11_1","unstructured":"McDermottD FongJ BassonC.2004. 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